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• Title:Emery and Rimoin's principles and practice of medical genetics.
  
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• Variant Title:Principles and practice of medical genetics
  
• Other Contributors/Collections:Rimoin, David L., 1936-2012.
  Emery, Alan E. H.
  
• Published/Created:Philadelphia, Pa. : Churchill Livingstone Elsevier, ©2007.
  

• Holdings

  Holdings Record Display

  • Location:BMB LIBRARY (VGH) stacksWhere is this?
    
  • Call Number: QZ50 .P755 2007
    
  • Number of Items:3
    
  • Status:Available
    
  • Location Has:v.1-3
    
    

  • Location:OKANAGAN LIBRARY stacksWhere is this?
    
  • Call Number: QZ50 .P755 2007
    
  • Number of Items:3
    
  • Status:Available
    
  • Location Has:v.1-3
    
    

  • Location:WOODWARD LIBRARY stacksWhere is this?
    
  • Call Number: QZ50 .P755 2007
    
  • Number of Items:3
    
  • Status:Available
    
  • Location Has:v.1-3
    
    

   
• Library of Congress Subjects:Medical genetics.
  
• Medical Subjects: Genetics, Medical.
  Genetic Diseases, Inborn.
  
• Edition:5th ed. / [edited by] David L. Rimoin ... [et al.].
  
• Description:3 volumes (xxxix, 3871, xcix pages, [30] pages of plates) : illustrations (some color) ; 29 cm.
  
• Summary:"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.
  
• Notes:Rev. ed. of: Emery & Rimoin's principles and practice of medical genetics. 4th ed. / edited by David L. Rimoin ... [et al.]. 2002.
  Includes bibliographical references and index.
  
• ISBN:0443068704 (set)
  9780443068706 (set)
  9996004678 (v. 1)
  9789996004674 (v. 1)
  9996004732 (v. 2)
  9789996004735 (v. 2)
  9996004791 (v. 3)
  9789996004797 (v. 3)
  
• Contents:V. 1
  History of medical genetics
  Medicine in a genetic context
  Nature and frequency of genetic disease
  Genomics and proteomics
  Genome structure and gene expression
  Epigenetics
  Mutations in human genetic disease: nature and consequences
  Mendelian inheritance
  Segregation analysis
  Analysis of genetic linkage
  Chromosomal basis of inheritance
  The morbid anatomy of the human genome: a chromosome-by-chromosome synopsis of disease-related genes and genetic loci
  Mitochondrial genes in degenerative diseases, cancer, and aging
  Multifactorial inheritance and complex diseases
  Population genetics
  Pathogenetics of disease
  Genetic epidemiology
  Human developmental genetics
  Human malformations
  Twins and twinning
  The molecular biology of cancer
  The biological basis of aging implications for medical genetics
  Pharmacogenetics and pharmacogenomics
  Forensic genetics
  Genetic assessment and pedigree analysis
  Bioinformatics
  Genetic risk assessment for common disease
  Risk estimation in genetic counseling
  Cytogenetic analysis
  Diagnostic molecular genetics
  Heterozygote testing and carrier screening
  Prenatal screening for neural tube defects and aneuploidy
  Techniques for prenatal diagnosis
  Neonatal screening
  Genetic counseling
  Enzyme replacement and pharmacologic chaperone therapies for lysosomal storage diseases
  Gene therapy: from visionary insights to clinical trials: a brain's eye view
  Ethical and social issues in clinical genetics
  Legal issues in genetic medicine
  The genetic basis of human female infertility
  Male infertility
  Fetal loss
  A clinical approach to the dysmorphic child
  Clinical teratology
  Abnormal mental development
  Abnormal body size and proportion
  Susceptibility and response to infection
  Transplantation genetics
  Clinical genetics of common autosomal trisomies
  Sex chromosome abnormalities
  Deletions and other structural abnormalities of the autosomes. V. 2
  Congenital heart disease
  Inherited cardiomyopathies
  Primary pulmonary hypertension: familial pulmonary arterial hypertension and idiopathic pulmonary arterial hypertension
  Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome)
  Hereditary disorders of the lymphatic and venous systems
  Familial dysrhythmias and conduction disorders
  Molecular basis of human hypertension
  Preeclampsia
  Common genetic determinants of coagulation and fibrinolysis
  Genetic determinants of atherosclerotic diseases
  Cystic fibrosis
  Asthma
  Hereditary pulmonary emphysema
  Interstitial and restrictive pulmonary disorders
  Congenital disorders of the urinary tract
  Cystic diseases of the kidney
  Nephrotic disorders
  Renal tubular disorders
  Cancer of the kidney and urogenital tract
  Gastrointestinal tract and hepatobiliary duct system
  Inflammatory bowel disease
  Bile pigment metabolism and its disorders
  Cancer of the colon and gastrointestinal tract
  Hemoglobinopathies and thalassemias
  Other hereditary red blood cell disorders
  Hemophilias and other disorders of hemostasis
  Rhesus and other fetomaternal incompatibilities
  Leukemias, lymphomas, and other related disorders
  Autoimmunity: genetics and immunologic mechanisms
  Systemic lupus erythematosus
  Rheumatoid disease and other inflammatory arthropathies
  Amyloidosis and other protein deposition diseases
  Immunodeficiency disorders
  Complement defects
  Disorders of leukocyte function
  Genetic disorders of the pituitary gland
  Thyroid disorders
  Parathyroid disorders
  Diabetes mellitus
  Genetic disorders of the adrenal gland
  Disorders of the gonads, genital tract, and genitalia
  Cancer of the breast and female reproductive tract
  Disorders of the body mass
  Genetic lipodystrophies
  Amino acid metabolism
  Disorders of carbohydrate metabolism
  Congenital disorders of protein glycosylation
  Purine and pyrimidine metabolism
  Lipoprotein and lipid metabolism. V. 3
  Disorders of fatty acid transport and mitochondrial oxidation
  Organic acidemias and disorders of fatty acid oxidation
  Vitamin D metabolism or action
  Inherited porphyrias
  Copper metabolism
  Iron metabolism and related disorders
  Mucopolysaccharidoses
  Oligosaccharidoses, disorders allied to the oligosaccharides
  Sphingolipid disorders and the neuronal ceroid lipofuscinoses or batten disease (Wolman disease, cholestrylester storage disease, and cerebrotendinous xanthomatosis)
  Peroxisomal disorders
  The genetics of personality
  Fragile X Syndrome and other causes of x-linked mental handicap
  Dyslexia and related learning disorders
  Attention deficit hyperactivity disorder
  Autism spectrum disorders (including Rett Syndrome)
  Genetics of Alzheimer disease
  Schizophrenia
  Major mood disorders
  Addictive disorders
  Neural tube defects
  Genetic disorders of cerebral cortical development
  Genetic aspects of human epilepsy
  Basal ganglia disorders
  Genetics of Tic disorders
  The hereditary ataxias
  Hereditary spastic paraplegia
  Autonomic and sensory disorders
  The phakomatoses
  Multiple sclerosis
  Cerebrovascular disorders
  Primary tumors of the nervous system
  Congenital muscular dystrophies
  Duchenne and other x-linked muscular dystrophies
  Autosomally inherited muscular dystrophies
  Hereditary motor and sensory neuropathies
  Congenital (structural) myopathies
  Spinal muscular atrophies
  Nondystrophic myotonias and periodic paralyses
  Myotonic dystrophies
  Hereditary and autoimmune myasthenias
  Motor neuron disease
  Color vision defects
  Optic atrophy and congenital blindness
  Glaucoma
  Defects of the cornea
  Anomalies of the lens
  Hereditary retinal and choroidal degenerations
  Strabismus
  Retinoblastoma and the RB1 cancer syndrome
  Hereditary hearing loss and deafness
  Craniofacial disorders
  Clefting, dental, and craniofacial syndromes
  Craniosynostosis
  Abnormalities of pigmentation
  Ichthyosiform dermatoses
  Epidermolysis bullosa
  Ectodermal dysplasias
  Other genetic disorders of the skin
  Skin cancer
  Marfan syndrome and related disorders
  Ehlers-Danlos syndrome
  Heritable diseases affecting the elastic tissues: cutis laxa, pseudoxanthoma elasticum, and related disorders
  Disorders predisposing to bone fragility and decreased bone density
  Disorders with increased bone density, volume, and mineralization
  Chondrodysplasias
  Abnormalities of bone structure
  The dysostoes
  Arthrogryposes (multiple congenital contractures)
  Common skeletal deformities
  Hereditary noninflammatory arthropathies.